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rs180177153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs180177153(C;C)
Make rs180177153(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position107649944
GenePRPS1
is asnp
is mentioned by
dbSNPrs180177153
dbSNP (classic)rs180177153
ClinGenrs180177153
ebirs180177153
HLIrs180177153
Exacrs180177153
Gnomadrs180177153
Varsomers180177153
LitVarrs180177153
Maprs180177153
PheGenIrs180177153
Biobankrs180177153
1000 genomesrs180177153
hgdprs180177153
ensemblrs180177153
geneviewrs180177153
scholarrs180177153
googlers180177153
pharmgkbrs180177153
gwascentralrs180177153
openSNPrs180177153
23andMers180177153
SNPshotrs180177153
SNPdbers180177153
MSV3drs180177153
GWAS Ctlgrs180177153
Max Magnitude0
ClinVar
Risk rs180177153(C;C)
Alt rs180177153(C;C)
Reference Rs180177153(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene PRPS1
CLNDBN Deafness, X-linked 1
Reversed 0
HGVS NC_000023.10:g.106893174T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010619.3,